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Hemangioblastoma

MedGen UID:
104929
Concept ID:
C0206734
Neoplastic Process
Synonym: Hemangioblastomas
SNOMED CT: Hemangioblastoma (81201000); Angioblastoma (81201000); Hemangioblastoma (1156474009)
 
HPO: HP:0010797
Monarch Initiative: MONDO:0016748
Orphanet: ORPHA252054

Definition

A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. [from HPO]

Professional guidelines

PubMed

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, Links TP, Halfdanarson TR, Daniels AB, Tirosh A; Pancreatic Manifestations Recommendations Development Subcommittee of the VHL Alliance
Cancer 2022 Feb 1;128(3):435-446. Epub 2021 Nov 4 doi: 10.1002/cncr.33978. PMID: 34735022
Hussain I, Parker WE, Barzilai O, Bilsky MH
Neurosurg Clin N Am 2020 Apr;31(2):237-249. Epub 2020 Jan 31 doi: 10.1016/j.nec.2019.12.004. PMID: 32147015

Recent clinical studies

Etiology

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Yang B, Luan S, Cao X, Bao W
Neurosciences (Riyadh) 2011 Apr;16(2):150-2. PMID: 21427665
Sung DI, Chang CH, Harisiadis L
Cancer 1982 Feb 1;49(3):553-5. doi: 10.1002/1097-0142(19820201)49:3<553::aid-cncr2820490326>3.0.co;2-a. PMID: 7199372

Diagnosis

Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Qu L, Lv C, Ji T, Wang Y, Yu J
Int J Surg Pathol 2021 Apr;29(2):129-134. Epub 2020 Jun 14 doi: 10.1177/1066896920933998. PMID: 32538251
McGrath LA, Mudhar HS, Salvi SM
Surv Ophthalmol 2019 Mar-Apr;64(2):175-184. Epub 2018 Oct 13 doi: 10.1016/j.survophthal.2018.10.002. PMID: 30321570
Schattner A, Cagnano E, Dubin I
Am J Med 2018 Jan;131(1):e15-e16. Epub 2017 Aug 12 doi: 10.1016/j.amjmed.2017.07.027. PMID: 28807712
Yang B, Luan S, Cao X, Bao W
Neurosciences (Riyadh) 2011 Apr;16(2):150-2. PMID: 21427665

Therapy

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Di Nicola M, Williams BK Jr, Hua J, Bekerman VP, Mashayekhi A, Shields JA, Shields CL
Ophthalmol Retina 2022 Jan;6(1):80-88. Epub 2021 Apr 20 doi: 10.1016/j.oret.2021.04.007. PMID: 33892136
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Yaghy A, Ruben M, Shields CL
J Fr Ophtalmol 2021 Jun;44(6):918-919. Epub 2021 Apr 15 doi: 10.1016/j.jfo.2020.10.015. PMID: 33865634
Hodgson TS, Nielsen SM, Lesniak MS, Lukas RV
Neurologist 2016 Sep;21(5):73-8. doi: 10.1097/NRL.0000000000000085. PMID: 27564075

Prognosis

Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Lu VM, Niazi TN
Pediatr Rev 2021 Sep;42(9):486-499. doi: 10.1542/pir.2020-000661. PMID: 34470868
Qu L, Lv C, Ji T, Wang Y, Yu J
Int J Surg Pathol 2021 Apr;29(2):129-134. Epub 2020 Jun 14 doi: 10.1177/1066896920933998. PMID: 32538251
Yang B, Luan S, Cao X, Bao W
Neurosciences (Riyadh) 2011 Apr;16(2):150-2. PMID: 21427665
Sung DI, Chang CH, Harisiadis L
Cancer 1982 Feb 1;49(3):553-5. doi: 10.1002/1097-0142(19820201)49:3<553::aid-cncr2820490326>3.0.co;2-a. PMID: 7199372

Clinical prediction guides

Lee SH, Park KH, Woo SJ, Park SJ, Joo K
Korean J Ophthalmol 2022 Dec;36(6):543-549. Epub 2022 Oct 25 doi: 10.3341/kjo.2022.0079. PMID: 36281577Free PMC Article
Fallah J, Brave MH, Weinstock C, Mehta GU, Bradford D, Gittleman H, Bloomquist EW, Charlab R, Hamed SS, Miller CP, Dorff SE, Chambers WA, Mixter BD, Dinin J, Pierce WF, Ricks TK, Tang S, Donoghue M, Pazdur R, Amiri-Kordestani L, Ibrahim A, Beaver JA
Clin Cancer Res 2022 Nov 14;28(22):4843-4848. doi: 10.1158/1078-0432.CCR-22-1054. PMID: 35727604Free PMC Article
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Etli MU, Sarıkaya C, Onen MR, Naderi S
World Neurosurg 2021 May;149:e780-e784. Epub 2021 Feb 1 doi: 10.1016/j.wneu.2021.01.100. PMID: 33540101
Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY
Retina 2019 Dec;39(12):2254-2263. doi: 10.1097/IAE.0000000000002572. PMID: 31259811Free PMC Article

Recent systematic reviews

Auricchio AM, Calvanese F, Pohjola A, Laakso A, Niemelä M
Neurochirurgie 2024 Mar;70(2):101537. Epub 2024 Feb 6 doi: 10.1016/j.neuchi.2024.101537. PMID: 38324942
Palavani LB, Andreão FF, de Abreu LV, Batista S, Borges J, Oliveira LB, Bertani R, Filho JAA
J Clin Neurosci 2023 Nov;117:104-113. Epub 2023 Oct 1 doi: 10.1016/j.jocn.2023.09.021. PMID: 37788533
Jankovic D, Vuong K, Splavski B, Rotim K, Arnautovic KI
World Neurosurg 2023 May;173:48-62. Epub 2023 Feb 22 doi: 10.1016/j.wneu.2023.02.071. PMID: 36822402
Jankovic D, Hanissian A, Rotim K, Splavski B, Arnautovic KI
World Neurosurg 2022 Feb;158:1-10. Epub 2021 Oct 21 doi: 10.1016/j.wneu.2021.10.105. PMID: 34687932
Ampie L, Choy W, Lamano JB, Kesavabhotla K, Kaur R, Parsa AT, Bloch O
Clin Neurol Neurosurg 2016 Nov;150:143-151. Epub 2016 Sep 19 doi: 10.1016/j.clineuro.2016.09.008. PMID: 27668858

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